| / English Dictionary |
CONGENITAL DISORDER
| Pronunciation (US): |  | (GB): | |
I. (noun)
Sense 1
Meaning:
A defect that is present at birth
Synonyms:
birth defect; congenital abnormality; congenital anomaly; congenital defect; congenital disorder
Classified under:
Nouns denoting stable states of affairs
Hypernyms ("congenital disorder" is a kind of...):
anomalousness; anomaly (deviation from the normal or common order or form or rule)
defect (an imperfection in a bodily system)
Hyponyms (each of the following is a kind of "congenital disorder"):
ankyloglossia; tongue tie (a congenital anomaly in which the mucous membrane under the tongue is too short limiting the mobility of the tongue)
syndactylism; syndactyly (birth defect in which there is partial or total webbing connecting two or more fingers or toes)
hyperdactyly; polydactyly (birth defect characterized by the presence of more than the normal number of fingers or toes)
spinocerebellar disorder (any of several congenital disorders marked by degeneration of the cerebellum and spinal cord resulting in spasticity and ataxia)
rachischisis; schistorrhachis; spina bifida (a not uncommon congenital defect in which a vertebra is malformed; unless several vertebrae are affected or there is myelomeningocele there are few symptoms; can be diagnosed by amniocentesis)
congenital heart defect (a birth defect involving the heart)
scaphocephaly (congenital malformation of the skull which is long and narrow; frequently accompanied by mental retardation)
pseudohermaphroditism (congenital condition in which a person has external genitalia of one sex and internal sex organs of the other sex)
hermaphrodism; hermaphroditism (congenital condition in which external genitalia and internal sex organs have both male and female characteristics)
polysomy (congenital defect of having one or more extra chromosomes in somatic cells)
plagiocephaly (congenital malformation of the skull in which the main axis of the skull is oblique)
myelomeningocele (a congenital defect of the central nervous system in which a sac containing part of the spinal cord and its meninges protrude through a gap in the vertebral column; frequently accompanied by hydrocephalus and mental retardation)
meningocele (a congenital anomaly of the central nervous system in which a sac protruding from the brain or the spinal meninges contains cerebrospinal fluid (but no nerve tissue))
encephalocele (protrusion of brain tissue through a congenital fissure in the skull)
meromelia (congenital absence of part of an arm or leg)
amelia (congenital absence of an arm or leg)
cleft palate (a congenital fissure of the hard palate)
cheiloschisis; cleft lip; harelip (a congenital cleft in the middle of the upper lip)
acrocephaly; oxycephaly (a congenital abnormality of the skull; the top of the skull assumes a cone shape)
Down's syndrome; Down syndrome; mongolianism; mongolism; trisomy 21 (a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation)
macroglossia (a congenital disorder characterized by an abnormally large tongue; often seen in cases of Down's syndrome)
clinodactyly (a congenital defect in which one or more toes or fingers are abnormally positioned)
clinocephalism; clinocephaly (a congenital defect in which the top of the head is depressed (concave instead of convex))
epispadias (a congenital abnormality in males in which the urethra is on the upper surface of the penis)
color blindness; color vision deficiency; colour blindness; colour vision deficiency (genetic inability to distinguish differences in hue)
ametria (congenital absence of the uterus)
anencephalia; anencephaly (a defect in brain development resulting in small or missing brain hemispheres)
albinism (the congenital absence of pigmentation in the eyes and skin and hair)
ablepharia (a congenital absence of eyelids (partial or complete))
Context examples:
An autosomal dominant congenital disorder affecting the skeletal muscles.
(Central Core Disease, NCI Thesaurus)
A congenital disorder charactized by an electrocardiographic finding of tachycardia that affects neonates and infants.
(Congenital Bundle of His Tachycardia, NCI Thesaurus)
A congenital disorder characterized by the presence of a defect (opening) in the septum that separates the two atria of the heart.
(Atrial Septal Defect, NCI Thesaurus/CDISC)
A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth.
(Arthrogryposis, NCI Thesaurus)
A non-neoplastic, congenital or non-congenital disorder charcaterized by marked reduction or absence of megakaryocytes and thrombocytopenia.
(Amegakaryocytosis, NCI Thesaurus)
A congenital disorder characterized by blockage or absence of the intrahepatic or extrahepatic bile ducts.
(Biliary Atresia, NCI Thesaurus)
Mutation of the gene is associated with congenital disorder of glycosylation type 2D.
(B4GALT1 wt Allele, NCI Thesaurus)
A rare congenital disorder characterized by cystic dilatation of the intrahepatic bile ducts.
(Caroli Disease, NCI Thesaurus)
A congenital disorder caused by mutations in the CPS1 gene.
(Carbamoyl-Phosphate Synthetase I Deficiency, NCI Thesaurus)
A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair and skin.
(Albinism, NCI Thesaurus)
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